Canonical Allele Identifier: CA581101107

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2993567
• ClinVar RCV Id: RCV003853142
• dbSNP Id: rs1313602618
• gnomAD v2: 8-37623158-G-A
• gnomAD v4: 8-37765640-G-A
• MyVariant Identifiers: chr8:g.37623158G>A (hg19) ; chr8:g.37765640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765640G>A , CM000670.2:g.37765640G>A	GRCh38
NC_000008.10:g.37623158G>A , CM000670.1:g.37623158G>A	GRCh37
NC_000008.9:g.37742316G>A	NCBI36
NG_053030.1:g.8888G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.207+7G>A MANE Select	ENSP00000333551.3:n.207+7G>A
ENST00000328195.7:c.207+7G>A	ENSP00000333551.3:n.207+7G>A
ENST00000518036.5:c.214G>A	ENSP00000428005.1:p.Ala72Thr
ENST00000520073.5:n.272+7G>A
ENST00000523187.5:c.51+7G>A	ENSP00000427886.1:n.51+7G>A
ENST00000523358.5:c.207+7G>A	ENSP00000427778.1:n.207+7G>A
ENST00000523994.1:n.212+7G>A
NM_007198.3:c.207+7G>A	NP_009129.1:n.207+7G>A
NM_001349346.1:c.207+7G>A	NP_001336275.1:n.207+7G>A
NM_001349347.1:c.207+7G>A	NP_001336276.1:n.207+7G>A
NM_001349348.1:c.51+7G>A	NP_001336277.1:n.51+7G>A
NM_001349349.1:c.312+7G>A	NP_001336278.1:n.312+7G>A
NM_007198.4:c.207+7G>A MANE Select	NP_009129.1:n.207+7G>A
NM_001349346.2:c.207+7G>A	NP_001336275.1:n.207+7G>A
NM_001349347.2:c.207+7G>A	NP_001336276.1:n.207+7G>A
NM_001349348.2:c.51+7G>A	NP_001336277.1:n.51+7G>A